Variant report

Variant	rs812066
Chromosome Location	chr1:176165791-176165792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:176156354..176160388-chr1:176161822..176166089,4	K562	blood:
2	chr1:176164722..176167623-chr1:176168817..176171023,3	MCF-7	breast:
3	chr1:176161390..176163219-chr1:176165371..176168368,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10753116	1.00[EUR][1000 genomes]
rs10913130	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1858182	1.00[AMR][1000 genomes]
rs2455763	1.00[AMR][1000 genomes]
rs2481638	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2481645	1.00[EUR][1000 genomes]
rs2481654	1.00[EUR][1000 genomes]
rs2502846	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3979615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4622022	1.00[EUR][1000 genomes]
rs4631649	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6662293	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7551432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv872565	chr1:176058782-176172795	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176126400-176168800	Weak transcription	Small Intestine	intestine
2	chr1:176127000-176174000	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:176128000-176175200	Weak transcription	Esophagus	oesophagus
4	chr1:176137400-176173000	Weak transcription	Right Ventricle	heart
5	chr1:176140000-176168200	Weak transcription	Psoas Muscle	Psoas
6	chr1:176143000-176165800	Weak transcription	Lung	lung
7	chr1:176144000-176172800	Weak transcription	HMEC	breast
8	chr1:176144400-176170800	Weak transcription	K562	blood
9	chr1:176144400-176173400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:176144600-176168600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:176144800-176172800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:176145000-176173200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:176146000-176171400	Weak transcription	Left Ventricle	heart
14	chr1:176146000-176173000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:176150600-176173000	Weak transcription	Hela-S3	cervix
16	chr1:176151800-176173000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:176152000-176168800	Weak transcription	Primary B cells from cord blood	blood
18	chr1:176152000-176168800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:176152000-176173000	Weak transcription	Thymus	Thymus
20	chr1:176153200-176165800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:176153200-176173000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:176153600-176169600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:176153600-176173000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:176153600-176173000	Weak transcription	HSMM	muscle
25	chr1:176153800-176166200	Weak transcription	Dnd41	blood
26	chr1:176156000-176172600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:176157800-176167200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:176158000-176166200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:176161200-176167600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:176161600-176173800	Weak transcription	HUVEC	blood vessel
31	chr1:176161800-176169600	Weak transcription	Primary T cells from cord blood	blood
32	chr1:176161800-176172400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:176162400-176166200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:176162600-176165800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:176163000-176173400	Weak transcription	Fetal Thymus	thymus
36	chr1:176163600-176173000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:176163800-176166800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr1:176164000-176168400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr1:176164200-176165800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr1:176164200-176165800	Weak transcription	Right Atrium	heart
41	chr1:176164200-176172800	Weak transcription	Adipose Nuclei	Adipose
42	chr1:176164200-176173200	Weak transcription	Brain Germinal Matrix	brain
43	chr1:176164800-176166800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr1:176164800-176167000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:176164800-176171200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr1:176165000-176165800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr1:176165000-176166600	Enhancers	Primary B cells from peripheral blood	blood
48	chr1:176165200-176170800	Weak transcription	Gastric	stomach
49	chr1:176165600-176166200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:176165600-176170600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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